Sugi Variant

Sugi Variant/CYP26B1

CYP26B1 — 173 ClinVar variants

All ClinVar germline CYP26B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 6 Conflicting · 14 Benign · 9 Benign/Likely benign · 48 Likely benign · 89 Uncertain significance

Full CYP26B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 70

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All CYP26B1 variants

Pathogenic 4

  • c.1146+2T>C Single submitter lethal occipital encephalocele-skeletal dysplasia syndrome
  • p.Met1Ile Single submitter lethal occipital encephalocele-skeletal dysplasia syndrome
  • p.Arg363Leu No assertion criteria lethal occipital encephalocele-skeletal dysplasia syndrome
  • p.Ser146Pro No assertion criteria lethal occipital encephalocele-skeletal dysplasia syndrome

Likely pathogenic 3

  • p.Arg397Gln Multiple submitters lethal occipital encephalocele-skeletal dysplasia syndrome ⚠
  • p.Arg363His Single submitter
  • p.Ser29Ter Single submitter lethal occipital encephalocele-skeletal dysplasia syndrome

Conflicting classifications of pathogenicity 6

Benign 14

Benign/Likely benign 9

Likely benign 48

Uncertain significance 89